E-LIB Suche - Ergebnisse für: Grunewald, Olivier

1

Wagner syndrome: Novel VCAN variant and prophylactic manage..:

Borella, Ysé ; Dhaenens, Claire-Marie ; Grunewald, Olivier.
American Journal of Ophthalmology Case Reports. 34 (2024) - p. 102061 , 2024

Link: https://doi.org/10.1016/..

2

Description of a New Simple and Cost-Effective Molecular Te..:

Fages, Victor ; Bourre, Florentin ; Larrue, Romain...
Kidney International Reports. 9 (2024) 5 - p. 1451-1457 , 2024

Link: https://doi.org/10.1016/..

3

Novel and Recurrent Copy Number Variants in ABCA4-Associate..:

Corradi, Zelia ; Dhaenens, Claire-Marie ; Grunewald, Olivier...
International Journal of Molecular Sciences. 25 (2024) 11 - p. 5940 , 2024

Link: https://doi.org/10.3390/..

4

Validation of Nanopore long-read sequencing to resolve RPGR..:

Vaché, Christel ; Faugère, Valérie ; Baux, David...
European Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

5

ROSAH syndrome mimicking chronic uveitis:

Fardeau, Christine ; Alafaleq, Munirah ; Dhaenens, Claire‐Marie...
Clinical Genetics. 103 (2022) 4 - p. 453-458 , 2022

Link: https://doi.org/10.1111/..

6

Contribution of Whole-Genome Sequencing and Transcript Anal..:

Poncet, Anaïs F. ; Grunewald, Olivier ; Vaclavik, Veronika...
International Journal of Molecular Sciences. 23 (2022) 8 - p. 4294 , 2022

Link: https://doi.org/10.3390/..

7

CRB1-Related Retinal Dystrophies in a Cohort of 50 Patients..:

Mairot, Kévin ; Smirnov, Vasily ; Bocquet, Béatrice...
International Journal of Molecular Sciences. 22 (2021) 23 - p. 12642 , 2021

Link: https://doi.org/10.3390/..

8

ALPK1 Gene Mutations Drive Autoinflammation with Ectodermal..:

Jamilloux, Yvan ; Mathis, Thibaud ; Grunewald, Olivier...
Journal of Clinical Immunology. 41 (2021) 7 - p. 1671-1673 , 2021

Link: https://doi.org/10.1007/..

9

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and..:

Smirnov, Vasily ; Grunewald, Olivier ; Muller, Jean...
International Journal of Molecular Sciences. 22 (2021) 12 - p. 6410 , 2021

Link: https://doi.org/10.3390/..

10

Origin and Evolution of the Halo-Volcanic Complex of Dallol..:

López-García, José M. ; Moreira, David ; Benzerara, Karim..
Frontiers in Earth Science. 7 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

11

A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell..:

Naubourg, Pierre ; El Osta, Marven ; Rageot, David...
International Journal of Neonatal Screening. 5 (2019) 1 - p. 10 , 2019

Link: https://doi.org/10.3390/..

12

The Reliable, Automatic Classification of Neonates in First..:

El Osta, Marven ; Naubourg, Pierre ; Grunewald, Olivier...
International Journal of Neonatal Screening. 5 (2019) 3 - p. 31 , 2019

Link: https://doi.org/10.3390/..

13

ROSAH syndrome mimicking chronic uveitis ; ROSAH syndrome e..:

Fardeau, Christine ; Alafaleq, Munirah ; Dhaenens, Claire‐marie...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14286. , 2022

Link: https://hal.sorbonne-uni..

14

A multicentre pilot study of a two-tier newborn sickle cell..:

Naubourg, Pierre ; El Osta, Marven ; Rageot, David...
10.3390/ijns5010010. , 2022

Link: https://hdl.handle.net/2..

15

ROSAH syndrome mimicking chronic uveitis ; ROSAH syndrome e..:

Fardeau, Christine ; Alafaleq, Munirah ; Dhaenens, Claire‐marie...
info:eu-repo/semantics/altIdentifier/doi/10.1111/cge.14286. , 2022

Link: https://hal.sorbonne-uni..